Research progress on whole-exome sequencing in the etiology of high myopia

VernacularTitle:全外显子组测序在高度近视病因学中的研究进展
Author: Ran SONG ¹ ; Jianfeng WU ; Wenjun JIANG
Author Information

1. 250014 山东省济南市,山东中医药大学
Keywords: whole-exome sequencing; high myopia; gene; mutation; single nucleotide polymorphism
From: Recent Advances in Ophthalmology 2024;44(6):480-486
CountryChina
Language:Chinese
Abstract: High myopia(HM)is closely related to genetic factors.In recent years,with the wide application of whole-exome sequencing in the genetic research of HM,new susceptibility genes such as basigin,low-density lipoprotein receptor-related protein-associated protein 1,and prolyl 4-hydroxylase subunit alpha 2 have been identified one after another,invol-ving scleral remodeling,energy metabolism,cell apoptosis and other biological pathways.The said findings further reveal the pathogenesis of HM.This article reviews the research progress on 15 HM-related susceptibility genes and their variants and related signaling pathways identified by whole-exome sequencing in recent years.